Lu Fang, Zhao Peiquan, Fan Yinchuan, Tang Shibo, Hu Jianbin, Liu Xiaoqi, Yang Xian, Chen Yiye, Li Tao, Lei Chuntao, Yang Jiyun, Lin Ying, Ma Shi, Li Chunyong, Shi Yi, Yang Zhenglin
Center for Human Molecular Biology & Genetics, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Sichuan, China.
Mol Vis. 2010 Jan 10;16:1-6.
Single nucleotide polymorphisms (SNPs) in the complement component 1 inhibitor (SERPING1) gene have been shown to be significantly associated with age-related macular degeneration (AMD) in Caucasian populations. A replication study of an association between these SNPs and AMD in a Chinese population is reported in this study.
Six SNPs, including rs2511990, rs1005510, rs11546660, rs2511989, rs2511988, and rs4926 in SERPING1 were genotyped in a Han Chinese subject group using the SNaPshot method of ABI. This subject group was composed of 194 patients with choroidal neovascularization (CNV or wet) AMD, 78 patients with soft drusen, and 285 matched controls. P values of the SNPs were calculated using an additive model. Haplotype frequencies between cases and controls were compared by chi2 analysis. The haplotype analysis was performed using Haploview 4.0.
None of the six SNPs showed significant association with AMD. None of the major haplotypes were observed to be significantly associated with AMD or choroidal neovascularization AMD (CNV) after a stringent Bonferroni correction.
We demonstrate that SNPs in SERPING1 are not significantly associated with AMD in the mainland Han Chinese population.
补体成分1抑制因子（SERPING1）基因中的单核苷酸多态性（SNP）已被证明与白种人群中年龄相关性黄斑变性（AMD）显著相关。本研究报道了这些SNP与中国人群AMD之间关联的重复研究。
采用ABI公司的SNaPshot方法，对汉族受试者组中SERPING1基因的6个SNP（包括rs2511990、rs1005510、rs11546660、rs2511989、rs2511988和rs4926）进行基因分型。该受试者组由194例脉络膜新生血管（CNV或湿性）AMD患者、78例软性玻璃膜疣患者和285例匹配对照组成。使用加性模型计算SNP的P值。通过卡方分析比较病例组和对照组之间的单倍型频率。单倍型分析使用Haploview 4.0进行。
6个SNP均未显示与AMD有显著关联。经过严格的Bonferroni校正后，未观察到任何主要单倍型与AMD或脉络膜新生血管性AMD（CNV）有显著关联。
我们证明，在中国大陆汉族人群中，SERPING1基因中的SNP与AMD无显著关联。
